We are now offering full gene sequencing and deletion/duplication analysis of the MEF2C gene.  Mutations of the MEF2C gene have been identified in patients with severe mental retardation, stereotypic movements, hypotonia, and epilepsy.  Phenotypic overlap exists between patients with MEF2C mutations and atypical Rett syndrome. 

We are now offering full gene sequencing and deletion/duplication analysis for Mowat-Wilson syndrome.  Mowat-Wilson syndrome is characterized by distinctive facial features, which in young children include hypertelorism, medially flared and broad eyebrows, prominent or pointed chin, uplifted earlobes and an opened mouth expression.  Individuals with MWS also present with moderate-to-severe mental retardation, seizures and microcephaly.  Congenital anomalies are also common, including Hirschsprung disease, genitourinary anomalies, congenital heart defects, agenesis of the corpus callosum and

There is broad clinical variability in the severity of Rett syndrome, including a milder variant of Rett syndrome.  Infant girls with Angelman syndrome having seizures and severe speech impairment can resemble girls with Rett syndrome.

Infantile spasms involve momentary flexion of the neck, trunk, or extremities, onsetting within the first year of life and subsiding during late infancy.  Affected children may develop other seizures and have severe developmental delays.  West syndrome is the triad of infantile spasms, hypsarrhythmia, and severe mental retardation.  Early onset and congenital forms of Rett syndrome include infantile spasms or early-onset epileptic seizures.

We are excited that we have shorter turn-around-times for the following tests:

Our lab is now performing methylation-specific (MS) MLPA for Angelman and Prader-Willi syndromes.  This testing will identify patients with abnormal methylation, large deletions and imprinting center deletions.  Those patients with abnormal methylation, but no deletion, should pursue UPD testing for UPD15.  Angelman syndrome patients with normal methylation should consider sequencing for UBE3A.  This testing eliminates the need for additional FISH testing or imprinting center testing for these patients.

We are now offering full gene sequencing of the five known genes for autosomal recessive primary microcephaly (MCPH).  Autosomal recessive primary microcephaly (MCPH) is characterized by congenital microcephaly, mental retardation (but no other neurological findings), normal or mildly short stature, and normal weight and appearance.  Mutations in the ASPM gene are the most common cause of MCPH.  Approximately 40% of patients (both consanguineous and non-consanguineous) with a strict diagnosis of MCPH have mutations in ASPM.  A small number of families with MCPH have been r